Hereditary Hemochromatosis
An Algorithmic Approach to Diagnosis
Genetic Testing
January 2009
Genetic testing for hemochromatosis is indicated if transferrin saturation and ferritin concentration are high. Patients who are either homozygous for C282Y or heterozygous for C282Y and H63D have hereditary hemochromatosis.
Genetic Testing |
Jump to section:
- Introduction
- Hereditary Hemochromatosis
- Normal Iron Absorption and Distribution
- Iron Overload Absorption and Distribution
- Iron Uptake, Preservation and Elimination
- Duodenum
- Iron Absorption and Transport by Intestinal Epithelium
- Iron Absorption and Transport by Intestinal Epithelium
- Hemochromatosis-Related Iron Accumulation
- Iron Absorption, Conservation and Transport by Hepatocyte
- Iron Absorption, Conservation and Transport in Hemochromatosis
- Effect of Hemochromatosis on Duodenal Crypt Cell
- Iron Absorption, Conservation and Transport in Hemochromatosis
- Clinical Presentation
- Clinical Presentation
- Hemochromatosis - Clinical Syndrome
- Laboratory Diagnosis: Serum Testing
- HFE Gene
- Hereditary Hemochromatosis
- Inheritance
- Genetic Testing
- Diagnostic Testing Algorithm
- Hemochromatosis - Gross Liver
- Hemochromatosis - Liver Microscopic
- Laboratory Diagnosis
- Treatment
- Summary
- Questions?